A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549415



Internal ID16336824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237128848..237783664hg38UCSC Ensembl
Innerchr1:237292148..237946964hg19UCSC Ensembl
Innerchr1:235358771..236013587hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38654817
hg19654817
hg18654817
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv738852
Samples
Known GenesRYR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549415
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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